• <em>OFD1</em> mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China
• A case of oro-facial digital syndrome
• A comprehensive evaluation of an OFDI syndrome from child to teenager
• A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
• A Rare Case of Cleft Palate Associated With Tongue Hamartoma: A Case Report and Systematic Review
• A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management
• A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
• Abnormal accumulation of OFD1 in endometrial cancer with poor prognosis inhibits ciliogenesis
• Acute pancreatitis during long-term peritoneal dialysis management associated with the OFD-1 mutation
• An actin filament branching surveillance system regulates cell cycle progression, cytokinesis and primary ciliogenesis
• An extremely rare case of Oro-facial digital syndrome: A case report
• An initial study on the agreement of body temperatures measured by infrared cameras and oral thermometry
• An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns
• Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome
• B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient
• Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
• Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
• Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI
• Can Concomitant Masticatory Muscle Contraction Interfere with Temporomandibular Joint Arthralgia Evaluation?
• Carotid cavernous fistula (CCF) with coil embolization in interventional radiology: A case report
• Centriolar Protein C2cd3 Is Required for Craniofacial Development
• Ciliary Genes in Renal Cystic Diseases
• Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling
• Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation
• Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
• Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region
• Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders
• Comparison of mRNA expression from Y-chromosome X-degenerate region genes in taurine cattle, yaks and interspecific hybrid bulls
• Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
• Confirming TBC1D32-related ciliopathy in humans
• Copy Number Variations of Four Y-Linked Genes in Swamp Buffaloes
• Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Cystic Kidneys in a Patient with Craniofacial Abnormalities
• Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series
• Development and surgical application of a custom implant that enables a vertical vector of mandibular distraction
• Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
• Distinct Roles of TRAPPC8 and TRAPPC12 in Ciliogenesis via Their Interactions With OFD1
• Emerging Technologies of Three-Dimensional Printing and Mobile Health in COVID-19 Immunity and Regenerative Dentistry
• Evaluation of temporomandibular joint dysfunction in traumatic brain injury patients
• Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes
• Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
• Extracapsular dissection via sternocleidomastoid muscle-parotid space approach-a new operative technique for treating clinically benign tumor in the parotid tail
• Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin
• Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management
• Genetic screening is essential in polycystic kidney disease: It is never too late!
• Gnathological and osteopathic treatments with digital evalua- tions before and after therapies: a case report of a patient with ehlers-danlos syndrome
• IFT172 as the 19th gene causative of oral-facial-digital syndrome
• IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1
• Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients
• Indian child with novel variant in OFD1 gene
• INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
• INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder
• Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
• Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2
• KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant
• Managing Predicted Post-Orthognathic Surgical Defects Using Combined Digital Software: A Case Report
• Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?
• Molecular diagnosis of kidney transplant failure based on urine
• Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
• Myosin VI regulates ciliogenesis by promoting the turnover of the centrosomal/satellite protein OFD1
• Novel Surgical Technique for Correction of Incomplete Median Cleft Lip Deformity in Oral-Facial-Digital Syndrome Type II
• Oral and dental abnormalities in Coffin Siris syndrome : A new case report
• Oral findings and comprehensive dental management of Moebius syndrome: a systematic review
• Oral-facial-digital syndrome type : a case report
• Oral-Facial-Digital Syndrome Type 1: A Case Report and Review
• Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families
• Oral-facial-digital syndrome type 1: the kidney cystic disease that mimics autosomal dominant polycystic kidney disease
• Oral-facial-digital syndrome type Ⅰ: a case report
• Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit
• Oro-facial-digital syndrome type 1 and neuronal migration disorders
• Oro-facial-digital syndrome type I: a case report with novel features
• Oro-Facial-Digital Syndrome: Unspecified Type with the Spontaneous Fusion of Cleft Palate
• Orofaciodigital syndrome type II (Mohr syndrome): a case report
• Papillon-Leage and psaume syndrome patient with multiple dental and orofacial anomalies
• Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome
• Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1
• Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome
• Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
• Planning for the future of a pediatric kidney transplant recipient with special needs: A parent's perspective
• Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review
• Recurrent Pancreatitis in a Patient With Oral-Facial-Digital Syndrome
• Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy
• Simultaneous PSI-Based Orthognathic and PEEK Bone Augmentation Surgery Leads to Improved Symmetric Facial Appearance in Craniofacial Malformations
• State of art of mobility medicine: some more abstracts and evidence that the success of Pdm3 is based on extra-session relationships
• Syndromic ciliopathy: a taiwanese single-center study
• The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression
• The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia
• The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle
• The role of OFD1 in selective autophagy
• The splice c.1815G&gt;A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
• The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
• Tongue hamartomas in pediatric patients: an international case series and literature review
• TOPORS as a novel causal gene for Joubert syndrome
• Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing
• Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1
• Truncating mutations in exons 20 and 21 of <em>OFD1</em> can cause primary ciliary dyskinesia without associated syndromic symptoms
• Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1
• Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome by inducing primary cilia abnormality
• Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality
• Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome